In a table in a paper titled Cerebral folate deficiency: Analytical tests and differential diagnosis, there's the following description of a mutation in a patient:
Homozygous c.195C>G; (p.Cys65Trp)
I wonder what the letter c means here.
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Sign up to join this communityIn a table in a paper titled Cerebral folate deficiency: Analytical tests and differential diagnosis, there's the following description of a mutation in a patient:
Homozygous c.195C>G; (p.Cys65Trp)
I wonder what the letter c means here.
I typed "c dna mutation" in Google and this article was the first hit:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867422/
The "c" denotes coding DNA, which given the context of the amino acid mutation having the letter "p", this makes sense.
It means coding DNA reference sequence. Please refer the following link for more information. https://varnomen.hgvs.org/bg-material/simple/ . This should help.